Table 1.
Clinical presentation of subjects with biallelic inactivating UBE3B gene mutations
| Subject(s) | UCSC-KS01 | UCSC-KS02 | 1 | 2–1 | 2–2 | 3 | KOS |
|---|---|---|---|---|---|---|---|
| Reference(s) | This study | This study | 12 | 12 | 12 | 12 | 1–4 |
| UBE3B mutations | c.556C>T* truncating |
c.1166G>A* truncating |
c.1741+2G>C* truncating |
c.545−2A>G truncating c.2223_2224delAG truncating |
c.2180A>C* p.Q727P |
Unknown | |
| Sporadic/familial | Sporadic | Sporadic | Sporadic | Familial | Sporadic | 1 familial 4 sporadic |
|
| Sex | Female | Female | Female | Female | Male | Female | 5 female 3 male |
| Neonatal findings | |||||||
| Weight | 25th cent. | 3rd cent. | 3rd cent. | 3rd cent. | 3rd cent. | nr | Variable† |
| Respiratory distress | + | + | + | + | − | + | + (7/7) |
| Laryngeal stridor/noisy breathing | + | + | + | − | − | + | + (3/4) |
| Failure to thrive | + | + | + | + | + | + | + (5/6) |
| Feeding difficulties | + | + | + | + | + | + | + (5/6) |
| Reduced growth | + | + | − | + | + | + | + (3/7) |
| Delayed psychomotor development | + | + | + | + | + | + | + (8/8) |
| Delayed language | + | + | + | + | + | + | + (4/4) |
| Seizures | + | + | − | − | − | + | − (1) |
| Shuffling gait | + | + | nr | nr | nr | + (3/4) | |
| Hypotonia | + | + | + | + | − | + | + (5/6) |
| Craniofacial features | |||||||
| Microbrachycephaly | + | + | + | + | + | + | + (7/7) |
| Long face | + | − | − | + | + | + | + (5/7) |
| Sparse and laterally broad eyebrows | + | + | + | + | + | + | + (7/7) |
| Upslanting palpebral fissures | + | + | − | + | + | − | + (7/7) |
| Telecanthus | + | + | + | + | + | + | + (5/6) |
| Blepharophimosis | + | + | + | + | + | + | + (3/4) |
| Ptosis | − | + | + | +‡ | − | + | + (2/3) |
| Epicanthal folds | + | + | + | + | + | + | + (4/7) |
| Short nose | + | + | + | + | + | + | + (2/3) |
| Anteverted nares/columella below alae nasi | + | + | + | + | + | + | + (2/3) |
| Long philtrum | + | + | + | + | + | + | + (5/6) |
| Thin lips | + | − | − | + | + | + | + (7/7) |
| Small mouth | + | + | + | + | + | + | + (3/5) |
| Micrognathia | + | + | + | + | + | + | + (8/8) |
| High, narrow palate | +§ | + | + | +§ | − | − | + (5/5) |
| Small/frail teeth | + | + | − | − | − | nr | + (6/7) |
| Cup shaped ears | + | + | + | + | + | + | + (7/8) |
| Preauricular tags | + | + | − | − | − | − | + (1/8) |
| Auricular stenosis | + | + | − | − | − | − | nr |
| Eye anomalies | |||||||
| Microcornea | +¶ | +¶ | nr | nr | nr | nr | + (5/7) |
| Strabismus | + | + | − | + | − | − | + (6/7) |
| Pale disk | + | + | − | − | − | − | − (5/7) |
| Nystagmus | − | − | − | − | − | − | − (1/6) |
| Myopia/astigmatism | + | − | − | + | − | − | + (5/6) |
| Hearing impairment | + | + | + | − | − | − | nr |
| Skeletal features | |||||||
| Bell shaped thorax | + | + | nr | nr | nr | nr | + (5/6) |
| Long and thin fingers | + | + | nr | nr | nr | nr | + (6/6) |
| Coxa valga | + | − | nr | nr | nr | nr | + (2/2) |
| Pes talus valgus/varus | + | + | nr | nr | nr | nr | + (2/3) |
| Clitoromegaly | + | + | nr | nr | nr | + (3/4) | |
| Constipation | + | + | − | + | + | − | + (3/4) |
| Gastro-oesophageal reflux | + | + | + | + | + | + | + (1/1)** |
| Thin skin | + | + | + | + | + | + | nr |
| Reduced cholesterol values | − | +††,‡‡ | +†† | +‡‡ | − | +‡‡ | nr |
*Homozygous change by descent.
†3rd cent. (N=3); 10th cent. (N=1); 25th cent. (N=1); 75th cent. (N=3).
‡Unilateral (left).
§Submucous cleft palate.
¶<9 mm diameter at 14 years.
**Pyloric spasm.
††Low HDL cholesterol.
‡‡Low total cholesterol.
cent., centile; HDL, high density lipoprotein; KOS, Kaufman oculocerebrofacial syndrome; nr, not reported.